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Fragmented epiphyses

MedGen UID:
867862
Concept ID:
C4022253
Anatomical Abnormality
Synonym: Fragmented end part of bone
 
HPO: HP:0100168

Definition

Fragmented appearance of the epiphyses. [from HPO]

Conditions with this feature

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

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